Intellectual disability due to heterozygous c.40C>T variant of TRIP12 gene in a patient / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 131-133, 2021.
Artigo
em Chinês
| WPRIM
| ID: wpr-879538
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a patient with intellectual disability.@*METHODS@#Whole exome sequencing and Sanger sequencing were carried out for the patient. The result was verified in her family.@*RESULTS@#DNA sequencing revealed that the patient has carried a heterozygous nonsense c.40C>T (p.Arg14X) variant of the TRIP12 gene, which was de novo in origin. The variant was unrecorded in the Human Gene Mutation Database. Based on the American College of Medical Genetics and Genomics standards and guidelines, the variant was predicted to be pathogenic (PVS1+ PS2+ PP3).@*CONCLUSION@#The patient was diagnosed with autosomal dominant intellectual disability due to heterozygous c.40C>T variant of the TRIP12 gene.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Proteínas de Transporte
/
Códon sem Sentido
/
Ubiquitina-Proteína Ligases
/
Sequenciamento do Exoma
/
Heterozigoto
/
Deficiência Intelectual
Tipo de estudo:
Guia de Prática Clínica
Limite:
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Artigo
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